A case report of prostate cancer with ureteral metastasis / 中华泌尿外科杂志

Prostate cancer is a common malignancy in men, but rarely metastases to the ureter. A 68-year-old patient with ureteral metastases of prostate cancer was admitted to the hospital due to left lumbar and abdominal pain one month. Enhanced CT examination of urinary system after admission: mass in the middle of left ureter; multiple enlarged pelvic, retroperitoneal and left groin lymph nodes. After admission, the patient's PSA was 69.4 ng/ml, a prostate transrectal needle biopsy showed acinar adenocarcinoma. Under ureteroscopy, a smooth hard mass was seen 15 cm from the left ureteral orifice and completely obstructed the left ureter, the biopsy pathology showed infiltration of heteromorphic cell mass, and tumor could not be excluded. Laparoscopic ureteral tumor resection + end to end ureteral anastomosis was planned and intraoperative freezing was performed to determine the nature of the tumor. Due to severe adhesion around the tumor, partial nephrectomy, ureter and cystectomy were performed. The postoperative pathological diagnosis was ureteral metastasis of prostate cancer. The patient was treated postoperatively with abiraterone and goseririn for prostate cancer. CT examination 6 months after surgery showed multiple pelvic and retroperitoneal lymph node enlargement disappeared.

Phenotype and genotype analysis of a pedigree affected with Joubert syndrome due to variant of TMEM237 gene / 中华医学遗传学杂志

OBJECTIVE@#To explore the pathogenesis of two siblings (including a fetus) from a pedigree affected with Joubert syndrome.@*METHODS@#Peripheral blood samples of the proband and his parents as well as amniotic fluid and abortion tissues of the fetus were collected. Part of the samples were used for the extraction of DNA, and whole exome sequencing (WES) was carried out to screen potential variants in the proband and his parents. Suspected variants were subjected to bioinformatics analysis with consideration of the clinical phenotype, and were verified by Sanger sequencing of the proband, fetus and their parents.The remainders were used for the extraction of RNA, and the mechanism of splicing variant was validated by reverse transcription-PCR (RT-PCR).@*RESULTS@#WES showed that both patients have carried c.175C>T (p.R59X) and c.553+1G>A compound heterozygous variants of the TMEM237 gene. Among these, c.175C>T was a nonsense mutation inherited from the asymptomatic mother, while c.553+1G>A was an alternative splicing mutation inherited from the asymptomatic father. RT-PCR showed that this variant has resulted in aberrant splicing by exon skipping.@*CONCLUSION@#The compound heterozygous variants of the TMEM237 gene probably underlay the etiology of Joubert syndrome in this pedigree. Above finding has enriched the phenotype and variant spectrum of the TMEM237 gene, and facilitated genetic counseling and prenatal diagnosis for the family.

Quantitative evaluation of left ventricular myocardium damage in patients with breast cancer after combined chemotherapy using velocity vector imaging / 中国医学影像技术

Objective: To investigate the value of velocity vector imaging (VVI) in quantitatively evaluating the degree of myocardial damage in breast cancer patients treated with combined chemotherapy. Methods Totally 65 patients with human epidermal growth factor receptor-2 (HER-2) positive breast cancer were divided into CETH group (combined chemotherapy with Herceptin) and CET group (combined chemotherapy). Routine echocardiography and VVI were performed before chemotherapy and at the end of the 5th and 7th chemotherapy cycles, respectively. The parameters of conventional echocardiography, systolic strain rate (SSR) and early diastolic strain rate (DSR) were analyzed. Results No significant difference of ultrasound parameters was found between CETH group and CET group before and at the end of the 5th, 7th cycles of chemotherapy (all P>0.05). In both CETH group and CET group, there were significant differences of SSR and DSR in 16 segments of left ventricle before and at the end of the 5th and 7th cycles of chemotherapy (all P<0.05). With the prolongation of chemotherapy time, SSR and DSR decreased gradually, and there were significant differences between each of the two time points (all P<0.05). At the end of the 7th cycle of chemotherapy, SSR and DSR of left ventricular segments in CETH group were lower than those in CET group (all P<0.05). Conclusion VVI is more sensitive than conventional echocardiography in detecting left ventricular myocardial damage, which can quantitatively assess myocardial damage of breast cancer patients with different chemotherapy regimens.